Papers by Aline Pic-Taylor
Molecular Syndromology, 2012
Please charge to my credit card २ American Express २ Diners २ MasterCard २ Visa Card No.: Exp. da... more Please charge to my credit card २ American Express २ Diners २ MasterCard २ Visa Card No.: Exp. date: CVV/CVC (3 digits in the signature fi eld on the back of Visa and MasterCard) २ Check enclosed २ Please bill me Orders may be placed with any bookshop, subscription agency, directly with the publisher or through a Karger distributor.
Molecular and Cellular Biology, Nov 1, 2004
The forkhead transcription factor Fkh2p acts in a DNA-bound complex with Mcm1p and the coactivato... more The forkhead transcription factor Fkh2p acts in a DNA-bound complex with Mcm1p and the coactivator Ndd1p to regulate cell cycle-dependent expression of the CLB2 gene cluster in Saccharomyces cerevisiae. Here, we demonstrate that Fkh2p is a target of cyclin-dependent protein kinases and that phosphorylation of Fkh2p promotes interactions between Fkh2p and the coactivator Ndd1p. These phosphorylation-dependent changes in the Fkh2p-Ndd1p complex play an important role in the cell cycle-regulated expression of the CLB2 cluster. Our data therefore identify an important regulatory target for cyclin-dependent kinases in the cell cycle and further our molecular understanding of the key cell cycle regulatory transcription factor Fkh2p.
Metabolic Brain Disease, Feb 27, 2020
Ayahuasca is a hallucinogenic beverage that affects the serotonergic system and have therapeutic ... more Ayahuasca is a hallucinogenic beverage that affects the serotonergic system and have therapeutic potential for many diseases and disorders, including depression and drug addiction. The objectives of this study were to evaluate the potential toxic effects of ayahuasca on rats after chronic exposure, and the levels of monoamines, their metabolites and the brain-derived neurotrophic factor (BDNF) in the brain. Female and male rats were treated orally for 28 days with H 2 O (control), fluoxetine (FLX), a selective serotonin reuptake inhibitor antidepressant, or ayahuasca (Aya) at doses of 0.5X, 1X and 2X the ritualistic dose (7 to 10 animals/group). Clinical, hematological and macroscopic results showed that ayahuasca was safe to the rats. Behavior tests conducted one hour after the last treatment showed that male rats from the Aya1 group explored the open field central area less than the control group, and the number of entries in the central area compared to total locomotion was also significantly lower in this group and in the FLX group. The hippocampus was removed for BDNF analysis and the remaining brain was used for monoamine analysis by HPLC-FL. Serotonin levels were significantly higher than control only in the Aya2 female group, while a significant reduction of its metabolite 5-HIAA was observed in the FLX group. Dopamine levels were similar among the experimental groups, but the levels of its metabolite DOPAC increased significantly in the Aya1 and Aya2 groups compared to controls, especially in females, and the DOPAC/dopamine turnover was significantly higher in Aya2 group. The levels of HVA, another dopamine metabolite, did not change with the treatments compared to controls, but HVA/DOPAC ratio was significantly lower in all ayahuasca male groups. Norepinephrine was not detected in any brain sample, and the levels of its metabolite MHPG did not change significantly among the groups. BDNF levels in the hippocampus were significantly higher in the FLX and Aya2 female groups compared to controls when expressed in relation to the total brain weight. The mechanisms involved in the increase in serotonin, dopamine turnover and BDNF levels observed in ayahuasca treated animals should be further investigated in specific brain areas.
Current Biology, Sep 1, 2003
2.205 Stopford Building The forkhead transcription factor Fkh2p is thought to Oxford Road act as ... more 2.205 Stopford Building The forkhead transcription factor Fkh2p is thought to Oxford Road act as an activator protein that drives the cell cycle-Manchester, M13 9PT dependent expression of genes in the CLB2 cluster 2 School of Cell and Molecular Biosciences ([4-7]; see [8-10] for reviews). To identify and map any Faculty of Medical Sciences transcriptional activation domain(s) (TAD) in Fkh2p, we University of Newcastle upon Tyne created a series of fusion proteins with the Gal4p DNA Newcastle upon Tyne, NE2 4HH binding domain, which spanned the length of Fkh2p United Kingdom (Figure 1A). These fusion proteins were then tested in 3 Department of Genetics a reporter gene assay by using a Gal4p binding site-University of Warsaw dependent lacZ reporter gene. Initially, activities were ul. Pawinskiego 5A measured in cells that had been synchronized in either 02-106 Warsaw G1 phase with ␣ factor or M phase with nocodazole Poland (Figure 1B). Of the three regions tested, strong transcrip-4 Division of Yeast Genetics tional activity was only seen from the N-terminal part of NIMR Fkh2p (amino acids 1-254). Moreover, an increase in Mill Hill activity was apparent in nocodazole-treated cells com-London, NW7 1AA pared to ␣ factor-treated cells, and this suggests that United Kingdom the activity of this domain increases at later times during the cell cycle. To further investigate this increase in activity, the activity of Gal-Fkh2(1-254) was compared Summary at different times in the cell cycle following release from ␣ factor arrest (Figure 1C). Consistent with the analysis Recent studies in Saccharomyces cerevisiae by using of nocodazole-treated cells, a gradual increase in the global approaches have significantly enhanced our activity of Gal-Fkh2(1-254) was observed as cells progknowledge of the components involved in the tranress through the cycle, and the increase of activity ocscriptional regulation of the cell cycle [1-3]. The curs at the time when enhanced activity of the Mcm1p-Mcm1p-Fkh2p complex, in combination with the co-Fkh2p complex is predicted to occur [6]. Thus, these activator Ndd1p, plays an important role in the cell data demonstrate that amino acids 1-254 of Fkh2p concycle-dependent expression of the CLB2 gene cluster tain a cell cycle-regulated TAD. during the G2 and M phases ([4-7]; see [8-10] for Cdc28p-Clb2p is important for the cell cycle-depenreviews). Fkh2p is phosphorylated in a cell cycledent expression of genes in the CLB2 gene cluster [11]. dependent manner, and peak phosphorylation occurs Hence, it was possible that the activity of the Fkh2p coincidentally with maximal expression of Mcm1p-TAD is regulated through cyclin-dependent kinase Fkh2p-dependent gene expression [6]. However, the (Cdk)-mediated phosphorylation. However, although mechanism by which this complex is activated in a this region of Fkh2p lacks potential Cdk sites, it does cell cycle-dependent manner is unknown. Here, we contain a FHA domain that is known to act as a phosdemonstrate that the forkhead-associated (FHA) dophothreonine binding motif in other proteins (reviewed main of Fkh2p directs cell cycle-regulated transcripin [12]). Thus, it is possible that the FHA domain provides tion and that the activity of this domain is dependent a link to cell cycle-dependent phosphorylation events. on the coactivator Ndd1p. Ndd1p was found to be The arginine residue at position 87, which is critical for phosphorylated in a cell cycle-dependent manner by phosphopeptide binding in other proteins (reviewed in Cdc28p-Clb2p, and, importantly, this phosphorylation [12]), was therefore mutated to alanine (R87A) to deterevent promotes interactions between Ndd1p and the mine whether this was important for its transcriptional FHA domain of Fkh2p. Furthermore, mutation of the activation capacity. In contrast to the high transcrip-FHA domain blocks these phosphorylation-dependent tional activity of the wild-type motif, the activity of Galinteractions and abolishes transcriptional activity. Our Fkh2(1-254)(R87A) was severely compromised in vivo data therefore link the transcriptional activity of the (Figure 1D). Furthermore, the transcriptional activation capacity of Gal-Fkh2(1-254)(R87A) was also compromised in in vitro transcription assays (see Figure S1 in
Revista Brasileira de Farmacognosia, May 1, 2017
Ayahuasca is a psychoactive beverage used ancestrally by indigenous Amazonian tribes and, more re... more Ayahuasca is a psychoactive beverage used ancestrally by indigenous Amazonian tribes and, more recently, by Christian religions in Brazil and other countries. This study aimed to investigate the reproductive effects of this beverage in male Wistar rats after chronic exposure. The rats were treated by gavage every other day for 70 days at 0 (control), 1×, 2×, 4× and 8× the dose used in a religious ritual (12 animals per group), and animals euthanized on the 71 st day. Compared to controls, there was a significant decrease in food consumption and body weight gain in rats from the 4× and 8× groups, and a significant increase in the brain and stomach relative weight at the 8× group. There was a significant increase in total serum testosterone, and a decrease in spermatic transit time and spermatic reserves in the epididymis caudae in the 4× group, but not in the highest dose group. No significant changes were found in the other reproductive endpoints (spermatozoid motility and morphology, total spermatozoid count and daily sperm production), and histology of testis and epididymis. This study identified a no-observed-adverse-effect-level for chronic and reproductive effects of ayahuasca in male Wistar rats at 2× the ritualistic dose, which corresponds in this study to 0.62 mg/kg bw N,N-dimethyltryptamine, 6.6 mg/kg bw harmine and 0.52 mg/kg bw harmaline. A potential toxic effect of ayahuasca in male rats was observed at the 4× dose, with a non-monotonic dose-response. Studies investigating the role of ayahuasca components in regulating testosterone levels are needed to better understand this action.
日本人類遺伝学会大会プログラム・抄録集, 2016
International Journal of Phytomedicine, Jun 19, 2016
Ayahuasca, a psychoactive infusion, is a sacrament used by indigenous and non communities in Braz... more Ayahuasca, a psychoactive infusion, is a sacrament used by indigenous and non communities in Brazil and other countries. This beverage has vaunted properties;however, its use in a therapeutic context still lacks preclinical data to certify its safety and effectiveness. This study evaluated the genotoxic, mutagenic and cytotoxic potential of ayahuasca in Wistar rats after a single oral dose. distributed into five experimental groups (n=10): negative control that received filtered water, positive control that received doxorubicin and treated groups that received ayahuascaat 1, 5 and 15 times the usual dose taken hours after dosage. Genotoxicitywas evaluated by flow cytometry, comet assay and micronucleus test. Renal, hepatic and pancreatic functions were evaluated by serumanalysis. Ayahuascashowed low genotox highest exposure level, and a 1.5 mg/kg bwN,N were observed in the tested conditions. Furthermore, hepatic, renal and pancreatic functions remained without significant changes for Keywords: disturbances This work is licensed under a Creative Commons Attribution 3.0 License
Biological Journal of The Linnean Society, Sep 28, 2018
Semiochemical dispersion-based communication is a determinant in squamate behaviour and reproduct... more Semiochemical dispersion-based communication is a determinant in squamate behaviour and reproduction. This communication mode is driven by different scent glands and is distributed widely among squamate lineages. However, most studies of such communication have focused on femoral glands, and there is little literature about semiochemical-based communication among clades that lack this structure. In this study, we describe a cloacal scent gland in Gymnodactylus lizards and discuss its evolutionary significance. This sexually dimorphic holocrine gland is located in the posterior cloacal lip, promoting the dispersion of its chemical compounds. Morphological analysis shows that this gland is derived from the inner epidermal generation and shares numerous characteristics with the femoral and pre-cloacal glands. Histochemical analysis confirms a lipid composition. Our study is the first report of this organ and provides the first autapomorphy for Gymnodactylus. Our histological and comparative approach provides a model for the evolution of this organ together with a reinterpretation of the evolutionary hypothesis proposed for the origin of generation glands and follicular glands. Finally, we also propose a terminology scheme to standardize the nomenclature of these different structures based on their origin and morphology.
JBRA assisted reproduction, 2016
Objective: To check the efficacy of two types of commercially available embryo culture medium: G1... more Objective: To check the efficacy of two types of commercially available embryo culture medium: G1-PLUS TM / G2-PLUS TM sequential (Vitrolife, Gothenburg, Sweden) and GV BLAST TM sole (Ingamed, Maringá, Brazil) with regards to fertilization, cleavage, blastocyst and pregnancy rates. Methods: Prospective and randomized study conducted from March to July 2015, using the medical records of 60 patients submitted to Intracytoplasmic Sperm Injection techniques (ICSI). Data regarding the age of patients, together with fertilization, cleavage, blastocyst and pregnancy rates, were collected and compared in relation to the: G1-PLUS TM /G2-PLUS TM sequential and GV BLAST TM sole mediums. The data were tabulated and compared using the Pearson's Chi-Square test (95% CI). Results: There was no significant difference when comparing patients divided into higher and lower fertility age. No significant statistical difference was noted between the fertilization rates (P=0.59), cleavage (P=0.91), evolution to blastocyst (P=0.33) and total pregnancy (P=0.83) when comparing the embryos cultured in the different media analysed. Conclusion: We conclude that the G1-PLUS TM / G2-PLUS TM sequential and GV BLAST TM sole mediums are equally effective with regards to fertilization, cleavage, blastocyst development and total pregnancy rates.
Metabolic Brain Disease, Oct 1, 2021
American Journal of Medical Genetics Part A
The ZDHHC9 gene encodes the Zinc Finger DHHC‐Type Containing 9 protein that functions as a palmit... more The ZDHHC9 gene encodes the Zinc Finger DHHC‐Type Containing 9 protein that functions as a palmitoyltransferase. Variants in this gene have been reported as the cause of Raymond‐type X‐linked intellectual disability with only 16 families described in the literature. This study reviews molecular and clinical data from previously reported patients and reports the case of a 13‐year‐old patient with a splicing variant in ZDHHC9 presenting intellectual disability, developmental delay, facial dysmorphisms, and skeletal defects. Although intellectual disability and developmental delay with severe speech delay have been reported in all cases with available clinical data, the remaining clinical signs differ significantly between patients. Missense, nonsense, frameshift, and splicing variants, in addition to large exonic deletions, have been described suggesting a loss of function mechanism. Though variants are distributed in almost all exons, most missense and nonsense variants affect argini...
Cytogenetic and Genome Research, 2016
Clinical and Experimental Dermatology, 2021
Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin ... more Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation. Click https://www.wileyhealthlearning.com/#/online-courses/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.
Hearing Research, Dec 1, 2018
Syndromic hearing loss accounts for approximately 30% of all cases of hearing loss due to genetic... more Syndromic hearing loss accounts for approximately 30% of all cases of hearing loss due to genetic causes. Mutation screening in known genes is important because it potentially sheds light on the genetic etiology of hearing loss and helps in genetic counseling of families. In this study, we describe a customized Ion AmpliSeq Panel, specifically designed for the investigation of syndromic hearing loss. The Ion AmpliSeq Panel was customized to cover the coding sequences of 52 genes. Twenty-four patients were recruited: 17 patients with a clinical diagnosis of a known syndrome, and seven whose clinical signs did not allow identification of a syndrome. Of 24 patients sequenced, potentially causative mutations were found in nine, all of which belonged to the group with a previous clinical diagnostic and none in the group not clinically diagnosed. We were able to provide conclusive molecular diagnosis to six patients, constituting a diagnostic rate of 25% (6/24). In the group of patients with a suspected clinical diagnosis, the diagnostic rate was 35% (6/17). Of the nine different mutations identified, three are novel, and were found in patients with Waardenburg, Treacher Collins and CHARGE syndromes. Since all patients with a conclusive molecular diagnosis through this panel had a previous suspected clinical diagnosis, our results suggest that this panel was more effective in diagnosing this group of patients. Therefore, the panel demonstrated effectiveness in molecular diagnosis when compared to others in the literature, especially for patients with a defined clinical diagnosis.
Journal of Drug Delivery Science and Technology, Feb 1, 2020
Emulsion incorporating Eugenia dysenterica aqueous extract entrapped in chitosan microparticles a... more Emulsion incorporating Eugenia dysenterica aqueous extract entrapped in chitosan microparticles as a novel topical treatment of cutaneous infections,
Cytogenetic and Genome Research, 2018
type analysis. Driver mutations in JAK2 , MPL , or CALR were investigated by PCR and MLPA. Conven... more type analysis. Driver mutations in JAK2 , MPL , or CALR were investigated by PCR and MLPA. Conventional cytogenetics revealed chromosome abnormalities in 3 out of 16 cases (18.7%), while chromosomal microarray analysis detected copy-number variations (CNV) or copy-neutral loss of heterozygosity (CN-LOH) alterations in 11 out of 16 (68.7%) patients. These included 43 CN-LOH, 14 deletions, 1 trisomy, and 1 duplication. Ten patients showed multiple chromosomal abnormalities, varying from 2 to 13 CNVs or CN-LOHs. Mutational status for JAK2 , CALR , and MPL by MLPA revealed a total of 3/16 (18.7%) patients positive for the JAK2 V617F mutation, 9 with CALR deletion or insertion and 1 positive for MPL mutation. Considering that most of the CNVs identified were smaller than the karyotype resolution and the high frequency of CN-LOHs in our study, we propose that chromosomal microarray platforms that combine oligos and SNP should be used as a first-tier genetic test in patients with myelofibrosis.
Scientific Reports
Incubation temperature is among the main phenotypic trait variation drivers studied since the dev... more Incubation temperature is among the main phenotypic trait variation drivers studied since the developmental trajectory of oviparous animals is directly affected by environmental conditions. In the last decades, global warming predictions have aroused interest in understanding its impacts on biodiversity. It is predicted that the effects of direct warming will be exacerbated by other anthropogenic factors, such as microclimatic edge effects. Although the Brazilian Cerrado biome is one of the most affected by these issues, little is known about the aforementioned effects on its biodiversity. Therefore, the aim of our study is to investigate the influence of incubation temperature on developmental parameters, morphology and thermal physiology traits of the collared lizard (Tropidurus torquatus). Furthermore, we discuss our findings regarding lizard developmental biology and the climate change paradigm. Therefore, we incubated T. torquatus eggs under five temperature regimes ranging fro...
Theriogenology, 2016
In vitro culture and transplantation procedures are essential protocols employed in the evaluatio... more In vitro culture and transplantation procedures are essential protocols employed in the evaluation of ovarian follicle survival and development. Culture in the chorioallantoic membrane (CAM) of chick embryos is an intermediate method that provides important follicle development information and has not been tested for cat ovaries to date. The aim of this study was to investigate if in vitro and CAM culture could be used as short-term systems to study cat ovarian tissue development. The ovaries of eight cats were dissected into 3-mm 3 cubes, cultured in vitro and in CAM for up to 5 days, and stained with hematoxylin-eosin and Gomori trichrome. Cell proliferation was analyzed using anti-Ki67. Possible differences among groups were investigated by analysis of variance or the Kruskal-Wallis test followed by Bonferroni correction. The T-test or Wilcoxon test was used to verify differences between the CAM and IVC. Results revealed that 87.5% of all follicles were primordial during culture. The percentage of primordial follicles in the morphologically normal follicles (MNF) pool was always higher than 80%, with the exception of Day 3 of CAM culture, but the number of MNF reduced significantly from Day 0 (600 out of 777 follicles) to Day 5 in the CAM (91 out of 171) and IVC (296 out of 686). The number of primordial follicles in 1 mm 3 in Days 2, 3, and 5 in the CAM was significantly lower than that in the control (Day 0). No cellular proliferation was observed in culture. Vascularization occurred in the CAM culture, but with no association to follicular viability. In addition, both methods showed an increase in connective tissue during culture. Although no significant differences were observed in the percentage of MNF, there was a reduction in the total number of follicles, both for IVC and CAM-cultured ovarian tissue. Furthermore, anti-Ki67 did not stain any follicle after Day 0 in IVC or in CAM culture. Neither system was capable of promoting follicle growth and/or development. The results show that the CAM is not a suitable system for feline ovarian tissue and highlight the necessity to improve IVC systems in cats.
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Papers by Aline Pic-Taylor